Clinical presentations and laboratory investigations in respiratory chain deficiency.

Clinical presentations and laboratory investigations in respiratory chain deficiency.

Item
http://www.wikidata.org/entity/Q41088407
Review: can diet influence the selective advantage of mitochondrial DNA haplotypes?Effect of 'binary mitochondrial heteroplasmy' on respiration and ATP synthesis: implications for mitochondrial diseasesA systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.Mitochondrial medicine--recent advances.Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigationMuscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy.Introduction of an additional pathway for lactate oxidation in the treatment of lactic acidosis and mitochondrial dysfunction in Caenorhabditis elegans.Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy.Multiple presentation of mitochondrial disordersFrequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients.Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases.Next generation sequence analysis for mitochondrial disordersBiochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes.Muscle-fiber transdifferentiation in an experimental model of respiratory chain myopathy.Spasms in children with definite and probable mitochondrial disease.
P2860

Clinical presentations and laboratory investigations in respiratory chain deficiency.

Item
http://www.wikidata.org/entity/Q41088407
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Clinical presentations and laboratory investigations in respiratory chain deficiency.
@en
type
label
Clinical presentations and laboratory investigations in respiratory chain deficiency.
@en
prefLabel
Clinical presentations and laboratory investigations in respiratory chain deficiency.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Clinical presentations and laboratory investigations in respiratory chain deficiency.
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698